Canonical Allele Identifier: CA2671535542

Gene: MTTP

Linked Data

• gnomAD v4: 4-99622741-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622744dup , CM000666.2:g.99622744dup	GRCh38
NC_000004.11:g.100543901dup , CM000666.1:g.100543901dup	GRCh37
NC_000004.10:g.100762924dup	NCBI36
NG_011469.1:g.63662dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2581dup MANE Select	ENSP00000265517.5:p.Ser861LysfsTer7
ENST00000457717.6:c.2581dup	ENSP00000400821.1:p.Ser861LysfsTer7
ENST00000511045.6:c.2332dup	ENSP00000427679.2:p.Ser778LysfsTer7
ENST00000265517.9:c.2581dup	ENSP00000265517.5:p.Ser861LysfsTer7
ENST00000457717.5:c.2581dup	ENSP00000400821.1:p.Ser861LysfsTer7
ENST00000511045.5:c.2662dup	ENSP00000427679.1:p.Ser888LysfsTer7
ENST00000619629.1:c.*1028dup	ENSP00000482850.1:n.*1028dup
NM_000253.3:c.2581dup	NP_000244.2:p.Ser861LysfsTer7
NM_001300785.1:c.2662dup	NP_001287714.1:p.Ser888LysfsTer7
NM_000253.4:c.2581dup	NP_000244.2:p.Ser861LysfsTer7
NM_001300785.2:c.2332dup	NP_001287714.2:p.Ser778LysfsTer7
NM_001386140.1:c.2581dup MANE Select	NP_001373069.1:p.Ser861LysfsTer7